Lubbock girl one of few with Alstrom Syndrome

A year ago, only about 800 people, past and present, had ever been diagnosed with Alstrom Syndrome.

Today that number is just more than 900 and at least 200 DNA samples are waiting to be tested for official diagnosis.

"There are only 900 known patients in the world," said Robert Marshall III, executive director of Alstrom Syndrome International and husband of Jan Marshall, the scientist who discovered Alstrom Syndrome. "A third of them are no longer living."

Five-year-old Bryce Johnston of Lubbock is still one of just four people in Texas with the disease.

"Bryce is doing really good, all things considered," said Cassie Johnston, Bryce's mother, in a phone interview with A-J Media. "Her vision has been deteriorating. Her hearing is still good, as of now."

Alstrom Syndrome is a disease that attacks several parts of the body, Marshall said.

"If you know someone who's blind, you know something about Alstrom Syndrome," he said. "If you know someone who's deaf … someone with diabetes … congestive heart failure … kidney dialysis, you know something about Alstrom Syndrome. If you know somebody who's got all of those things, you know someone with Alstrom Syndrome."

The disease is categorized as one of the 7,000 known rare diseases in the United States, said Ilana Jacqueline, managing editor at Global Genes.

"A rare disease is one that affects fewer than 200,000 people," Jacqueline said.

The symptoms are not always visible, but the effects most often tend to be serious, said Mary Dunkle, vice president of communications at the National Organization of Rare Diseases.

"More than 80 percent are genetic and do tend to be lifelong chronic types of diseases," she said.

Most rare diseases impact pediatric patients, Jacqueline said.

"Approximately 50 percent are children," she said. "Thirty percent of children with rare diseases will not see their fifth birthday. …Ninety-five percent of rare diseases have not one FDA treatment. That's why we push to send money to rare disease groups going to fund research and find cures. There's definitely a rush to find answers. There are a lot of diseases. They're very rare. The rarer the disease is, the less there is about it."

Funding is the biggest issue for rare disease patients, Dunkle said. Few rare diseases have FDA approved treatments and have research that is government funded.

"They're funded mostly by donations from patients' families, friends and disease organizations," she said. "Typically seed grants are from $30,000 to $40,000 a piece. At least they give patients some hope that the diseases are being studied."

Motivated by Bryce's conditions, the Johnston family hosted the first Alstrom Angels benefit at Four Bar K last year and raised $40,000 for Alstrom Syndrome International for research and awareness of the disease.

"We were able to take those funds and help fund a worldwide family conference," Johnston said. "It brings families from all over the globe, doctors, scientists and researchers interested in the syndrome. Part of the funds raised from last year's benefit helped with that. Since last year's benefit, we have been able to test 68 kids. Sixty of them now have a diagnosis. In the month of December, alone, we were able to test 19. It's been a really busy year."

Though the increased awareness of the disease is positive, the number of people still waiting to be diagnosed is a downside, Marshall said.

"The unhappy part is we have hundreds of samples in the pipeline waiting and waiting and waiting," he said. "Some cases are cases we are convinced are Alstrom Syndrome. They have unusual phenotypes and have unusual features. Never the less, … one of the challenges of Alstrom Syndrome is that it has astounding variability. It's just astounding. It has more than 200 individual disease-causing mutations. The official figure is 223 or something like that."

Because of its rarity, there are only a handful of studies currently searching for more answers about Alstrom Syndrome. While at a conference, the National Institutes of Health accepted Bryce into a study of rare diseases to look more closely at Alstrom Syndrome, Johnston said.

"The study itself has been going on for 10 years," Johnston said. "Part of what they're trying to understand is, why do so many complications happen? One might have kidney and liver failure while the other might have heart disease. Nobody gets everything, but everybody gets something. Blindness is kind of variable. They're trying to understand what causes that. (The National Institutes of Health are) working very closely with our labs (Jackson Laboratories in Maine)."

The family discovered Bryce had some beginning liver disease, Johnston said.

"Not enough to where we would treat with medication yet," she said.

Johnston said her family had been taking steps to prepare for Bryce's liver complications, so the news wasn't a total shock.

Bryce's family continues to preventatively treat the almost inevitable symptoms individually, she said.

Johnston hopes to net $50,000 for Alstrom Syndrome International with the benefit this year and help more people waiting for answers.

"The bulk of that will go to research, getting children tested in research programs that we have going on," Johnston said.

The event is Saturday evening, but an online auction is now open and includes prizes such as autographed guitars, certificates for bags of FiberMax cotton seed, scarves and jewelry and more.

"They can bid online and still be a part of it," she said. "It's going to be fun. Our band is the Matt Kimbrow Band. … If they want to come out, they can purchase tickets at our website."

Three of the four kids diagnosed with the disease in Texas will be in attendance, Johnston said. She hopes there will be more "Alstrom Angels" present, though.

"There are other families and we're all very close, but so spread out," she said. "Getting to bring this many kids in at one place for people to meet, we're pretty excited."

ellysa.gonzalez@lubbockonline.com

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